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Gene JAK3
Variant Q283H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions JAK3 Q283H lies within the FERM domain of the Jak3 protein (UniProt.org). Q283H is not transforming in cell culture (PMID: 26206799), and therefore, is predicted to have no effect on Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 Q283H

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Transcript NM_000215.4
gDNA chr19:g.17842328C>A
cDNA c.849G>T
Protein p.Q283H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17842328C>A c.849G>T p.Q283H RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17842328C>A c.849G>T p.Q283H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17842328C>A c.849G>T p.Q283H RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17842328C>A c.849G>T p.Q283H RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17842328C>A c.849G>T p.Q283H RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References